Výsledky vyhledávání - "Ana Júlia Cunha Leite"

Molecular characterization using exome sequencing of two probands with the undiagnosed developmental delay from Central Brazil

Autor: Irene Plaza Pinto, Ana Júlia Cunha Leite, Cristine Nascimento dos Santos, Renata Machado Pinto, Aparecido Divino da Cruz, Lysa Bernardes Minasi

Publikováno v: Conjecturas. 22:531-542

Noonan syndrome (NS) is a heterogeneous autosomal dominant disorder caused by germline mutations in genes belonging RAS-MAPK pathway. Herein, we described two patients with developmental delay and syndromic features from Central Brazil diagnosed with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::79539aaefd5967559afc7195666b2c19
https://doi.org/10.53660/conj-1075-q16

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